| H00169 | |
| H number | H00169 |
| Name | Ocular albinism; Ocular albinism type I (OA1); Waardenburg syndrome type II (WS2-OA) |
| Description | Ocular albinism type I is an X-linked disorder characterized by reduced visual acuity, photophobia, nystagmus, translucent irides, strabismus, hypermetropic refractive errors. Waardenburg syndrome type II is an autosomal dominant ocular albinism. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | (OA1) GPR143 [HSA:4935] [KO:K08470] (WS2A) MITF [HSA:4286] [KO:K09455] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 9E1Y ICD-10: E70.3 MeSH: D016117 OMIM: 300500 193510 |
| Reference | PMID:7647783 (GPR143) AUTHORS Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A TITLE Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. JOURNAL Nat Genet 10:13-9 (1995) DOI:10.1038/ng0595-13 PMID:7874167 (MITF) AUTHORS Tassabehji M, Newton VE, Read AP TITLE Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. JOURNAL Nat Genet 8:251-5 (1994) DOI:10.1038/ng1194-251 |